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  2. Retinitis pigmentosa_Autosomal Recessive/X-linked
  3. IDH3A
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Retinitis pigmentosa_Autosomal Recessive/X-linked

Gene: IDH3A

Green List (high evidence)
IDH3A (isocitrate dehydrogenase 3 (NAD(+)) alpha)
EnsemblGeneIds (GRCh38): ENSG00000166411
EnsemblGeneIds (GRCh37): ENSG00000166411
OMIM: 601149, Gene2Phenotype
IDH3A is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Six unrelated families reported with retinitis pigmentosa. Mouse model.
Sources: NHS GMS
Created: 20 Mar 2020, 7:38 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa

Publications

Created: 20 Mar 2020, 7:38 a.m.

Panel version: Imported from Retinitis Pigmentosa panel version 0.17

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa, MIM#619007
  • Leber congenital amaurosis
OMIM
601149
Clinvar variants
Variants in IDH3A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: idh3a has been classified as Green List (High Evidence).

4 Sep 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: IDH3A were changed from Retinitis pigmentosa; Leber congenital amaurosis to Retinitis pigmentosa, MIM#619007; Leber congenital amaurosis

19 May 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: idh3a has been classified as Green List (High Evidence).

19 May 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: IDH3A was added gene: IDH3A was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa. Sources: NHS GMS Mode of inheritance for gene: IDH3A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IDH3A were set to 31012789; 30478029; 30058936; 28412069 Phenotypes for gene: IDH3A were set to Retinitis pigmentosa; Leber congenital amaurosis